Works matching IS 13646745 AND DT 2020 AND VI 21 AND IP 2

Results: 8

Reply to letter to the editor by De Michele et al.

Published in:

2020

By:

Basak, A. Nazli

Publication type:

Letter

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

Published in:

Neurogenetics, 2020, v. 21, n. 2, p. 135, doi. 10.1007/s10048-020-00605-6

By:

Morin, Matias;
Forst, Anna-Lena;
Pérez-Torre, Paula;
Jiménez-Escrig, Adriano;
Barca-Tierno, Verónica;
García-Galloway, Eva;
Warth, Richard;
Lopez-Sendón Moreno, Jose Luis;
Moreno-Pelayo, Miguel Angel

Publication type:

Article

Of cognition and cerebellum in SCA48.

Published in:

2020

By:

De Michele, Giovanna;
Salvatore, Elena;
Cocozza, Sirio;
Filla, Alessandro;
Santorelli, Filippo M.

Publication type:

Letter

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.

Published in:

Neurogenetics, 2020, v. 21, n. 2, p. 79, doi. 10.1007/s10048-019-00591-4

By:

Lin, Shan;
Xu, Liu-Qing;
Xu, Guo-Rong;
Guo, Ling-Ling;
Lin, Bi-Juan;
Chen, Wan-Jin;
Wang, Ning;
Lin, Yi;
He, Jin

Publication type:

Article

Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.

Published in:

Neurogenetics, 2020, v. 21, n. 2, p. 97, doi. 10.1007/s10048-019-00590-5

By:

Peiwei Zhao;
Peng, Xuehua;
Luo, Sukun;
Huang, Yufeng;
Tan, Li;
Shao, Jianbo;
He, Xuelian

Publication type:

Article

POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Published in:

Neurogenetics, 2020, v. 21, n. 2, p. 121, doi. 10.1007/s10048-019-00602-4

By:

Harting, Inga;
Al-Saady, Murtadha;
Krägeloh-Mann, Ingeborg;
Bley, Annette;
Hempel, Maja;
Bierhals, Tatjana;
Karch, Stephanie;
Moog, Ute;
Bernard, Geneviève;
Huntsman, Richard;
van Spaendonk, Rosalina M. L.;
Vreeburg, Maaike;
Rodríguez-Palmero, Agustí;
Pujol, Aurora;
van der Knaap, Marjo S.;
Pouwels, Petra J. W.;
Wolf, Nicole I.

Publication type:

Article

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.

Published in:

Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5

By:

Ticci, Chiara;
Sicca, Federico;
Ardissone, Anna;
Bertini, Enrico;
Carelli, Valerio;
Diodato, Daria;
Di Vito, Lidia;
Filosto, Massimiliano;
La Morgia, Chiara;
Lamperti, Costanza;
Martinelli, Diego;
Moroni, Isabella;
Musumeci, Olimpia;
Orsucci, Daniele;
Pancheri, Elia;
Peverelli, Lorenzo;
Primiano, Guido;
Rubegni, Anna;
Servidei, Serenella;
Siciliano, Gabriele

Publication type:

Article

Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease.

Published in:

Neurogenetics, 2020, v. 21, n. 2, p. 105, doi. 10.1007/s10048-019-00600-6

By:

Hetmańczyk-Sawicka, Katarzyna;
Iwanicka-Nowicka, Roksana;
Fogtman, Anna;
Cieśla, Jarosław;
Włodarski, Paweł;
Żyżyńska-Granica, Barbara;
Filocamo, Mirella;
Dardis, Andrea;
Peruzzo, Paolo;
Bednarska-Makaruk, Małgorzata;
Koblowska, Marta;
Ługowska, Agnieszka

Publication type:

Article